Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing.
作者信息
Knowles Joshua W, Rader Daniel J, Khoury Muin J
机构信息
Division of Cardiovascular Medicine and Cardiovascular Institute, Stanford University, Stanford, California2The FH Foundation, Pasadena, California.
The FH Foundation, Pasadena, California3University of Pennsylvania, Philadelphia.
出版信息
JAMA. 2017 Jul 25;318(4):381-382. doi: 10.1001/jama.2017.8543.
Abstract
摘要
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1
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.在美国单一医疗体系中对家族性高胆固醇血症进行基因鉴定。
Science. 2016 Dec 23;354(6319). doi: 10.1126/science.aaf7000.
2
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.儿童-父母家族性高胆固醇血症的初级保健筛查。
N Engl J Med. 2016 Oct 27;375(17):1628-1637. doi: 10.1056/NEJMoa1602777.
3
Rapid identification of familial hypercholesterolemia from electronic health records: The SEARCH study.从电子健康记录中快速识别家族性高胆固醇血症：SEARCH 研究。
J Clin Lipidol. 2016 Sep-Oct;10(5):1230-9. doi: 10.1016/j.jacl.2016.08.001. Epub 2016 Aug 6.
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Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia: Evidence Report and Systematic Review for the US Preventive Services Task Force.儿童和青少年血脂筛查以发现家族性高胆固醇血症：美国预防服务工作组的证据报告和系统评价。
JAMA. 2016 Aug 9;316(6):645-55. doi: 10.1001/jama.2016.6176.
5
Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up.家族性高胆固醇血症患者 LDL-C 治疗目标达标情况：SAFEHEART 注册研究 5 年随访结果。
J Am Coll Cardiol. 2016 Mar 22;67(11):1278-85. doi: 10.1016/j.jacc.2016.01.008.
6
The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.家族性高胆固醇血症议程：美国心脏协会的科学声明
Circulation. 2015 Dec 1;132(22):2167-92. doi: 10.1161/CIR.0000000000000297. Epub 2015 Oct 28.
7
Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies.基于不同诊断和识别策略的家族性高胆固醇血症级联筛查的概率成本效益分析。
Heart. 2011 Jul;97(14):1175-81. doi: 10.1136/hrt.2010.213975.
8
Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands.荷兰家族性高胆固醇血症基因筛查项目的成本效益分析。
Semin Vasc Med. 2004 Feb;4(1):97-104. doi: 10.1055/s-2004-822992.
9
Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands.荷兰家族性高胆固醇血症前5年筛查情况回顾。
Lancet. 2001 Jan 20;357(9251):165-8. doi: 10.1016/S0140-6736(00)03587-X.
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